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Metadata
ID DOID:0081398
Name holoprosencephaly 12
Definition A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.
https://pubmed.ncbi.nlm.nih.gov/31006510/
Xrefs

MIM:618500

Synonyms

holoprosencephaly-12 with or without pancreatic agenesis [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a holoprosencephaly

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

existence starts during some Congenital onset

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